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ORPHA:686482

BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome

low confidenceDisorder

Also known as: BPTF-related NEDDFL · BPTF-related Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

Publications

1,820

Trials

0

Interventional, condition-specific

Researchers

404

Distinct authors in sample

Gene link

BPTF

Strong

Readiness

4/6

Stages with a signal

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (1)

neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Strong — BPTF

  2. LiteraturePresent

    1,820 matched papers (1,293 in last 10 years) Source

  3. Phenotype characterisedPresent

    27 HPO annotations (e.g. Motor delay; Broad hallux; Microcephaly) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (BPTF).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

27

Associated phenotypes · MONDO:0060596

  • Motor delay
  • Broad hallux
  • Microcephaly
  • Delayed speech and language development
  • Clinodactyly of the 5th finger

Showing 5 of 27 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,820

1,820 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,820 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,293 in the last 10 years · low confidence

Phrase hits: 33 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

404

Distinct author names in 33 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Stankiewicz P4 papers · 2025

    Baylor Genetics, Baylor College of Medicine, Houston, Texas, USA.

    Papers in Europe PMC
  2. 02
    Boschann F3 papers · 2025

    Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institut für Medizinische Genetik und Humangenetik, Berlin, Germany; Berlin Institute of Health, Charité - Universitätsmedizin Berlin, Berlin, Germany.

    Papers in Europe PMC
  3. 03
    Furlan M3 papers · 2025

    Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark; Department of Translational and Precision Medicine, Sapienza University of Rome, Rome, Italy.

    Papers in Europe PMC
  4. 04
    Gardella E3 papers · 2025

    Department of Clinical Neurophysiology, Danish Epilepsy Centre, Dianalund, Denmark; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark; Faculty of Health Sciences, Department of Regional Health Research, University of Southern Denmark, Odense, Denmark; Member of ERN EpiCARE. Electronic address: elga@filadelfia.dk.

    Papers in Europe PMC
  5. 05
    Glinton KE3 papers · 2025

    Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas.

    Papers in Europe PMC
  6. 06
    Møller RS3 papers · 2025

    Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark; Faculty of Health Sciences, Department of Regional Health Research, University of Southern Denmark, Odense, Denmark; Member of ERN EpiCARE.

    Papers in Europe PMC
  7. 07
    Stoltenburg C3 papers · 2025

    Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Sozialpädiatrisches Zentrum Neuropädiatrie, Berlin, Germany.

    Papers in Europe PMC
  8. 08
    Yang Y3 papers · 2025

    Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas; AiLife Diagnostics, Pearland, Texas.

    Papers in Europe PMC
  9. 09
    Amlie-Wolf L2 papers · 2024

    Division of Medical Genetics, Nemours Children's Health, Wilmington, Delaware.

    Papers in Europe PMC
  10. 10
    Bayat A2 papers · 2021

    Danish Epilepsy Centre, Dianalund, Denmark.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

("BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome" OR "BPTF-related NEDDFL" OR "BPTF-related Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies" OR "neurodevelopmental disorder with dysmorphic facies and distal limb anomalies") OR ("BPTF" OR "BPTF syndrome" OR "BPTF-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome" OR "BPTF-related NEDDFL" OR "BPTF-related Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies" OR "neurodevelopmental disorder with dysmorphic facies and distal limb anomalies"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1820) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T20:29:47.458Z